Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslipidemia. Although previous studies of the genetics...

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書誌詳細
主要な著者: Orr, Andrew, Dubé, Marie-Pierre, Marcadier, Julien, Jiang, Haiyan, Federico, Antonio, George, Stanley, Seamone, Christopher, Andrews, David, Dubord, Paul, Holland, Simon, Provost, Sylvie, Mongrain, Vanessa, Evans, Susan, Higgins, Brent, Bowman, Sharen, Guernsey, Duane, Samuels, Mark
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2007
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1925147/
https://ncbi.nlm.nih.gov/pubmed/17668063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0000685
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